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Istituto di scienza dell'alimentazione

Torna all'elenco Contributi in rivista anno 2004

Contributo in rivista

Tipo: Articolo in rivista

Titolo: Hb Cardarelli [beta86(F2)Ala-->Pro]: a new unstable and hyperaffine variant in association with beta(+)-thalassemia.

Anno di pubblicazione: 2004

Formato: Elettronico Cartaceo

Autori: Pagano L; Salzano AM; Carbone V; Iannelli D; Viola A; Pollio F; Prossomariti L; David O; Ricco G; Pucci P.

Affiliazioni autori: Centro Microcitemie ‘‘A. Mastrobuoni,’’ Azienda Ospedale Cardarelli, Napoli, Italia Dipartimento di Chimica Organica e Biochimica, Universita` di Napoli Federico II, Napoli, Italia Istituto di Scienze dell’Alimentazione, CNR, Avellino, Italia Laboratorio di Ematologia, Ospedale Infantile Regina Margherita, Torino, Italia CEINGE Biotecnologie Avanzate scrl, Napoli, Italia

Autori CNR:

  • VIRGINIA CARBONE
  • ANNA MARIA SALZANO

Lingua: inglese

Abstract: Hb Cardarelli [beta86(F2)Ala-->Pro] is a new unstable and high oxygen affinity variant found in several members of a family from Naples, Southern Italy. A detailed structural and functional characterization of the variant was performed on two subjects, at both the protein and DNA level. The first patient exhibited 43% of the variant hemoglobin (Hb) without major hematological problems. The proband showed 82% of the abnormal Hb in association with beta(+)-thalassemia (thal) that caused relevant erythrocytosis requiring frequent phlebotomies. Structural investigation of the Hb variant by mass spectrometric methodologies identified the amino acid replacement as Ala-->Pro at beta86. The corresponding DNA mutation GCC-->CCC at codon 86 of the beta-globin gene was assessed by both DNA sequencing and amplification refractory mutation system (ARMS) techniques. Functional studies carried out on whole blood and diluted hemolysates from both patients demonstrated increased oxygen affinity, decreased Bohr effect, reduced heme-heme interaction and nearly halved 2,3-diphosphoglycerate (2,3-DPG) and chloride effects.

Lingua abstract: inglese

Pagine da: 103

Pagine a: 115

Rivista:

Hemoglobin Marcel Dekker
Paese di pubblicazione: Stati Uniti d'America
Lingua: inglese
ISSN: 0363-0269

Numero volume: 28

Numero fascicolo: 2

DOI: 10.1081/HEM-120035915

Referee: Sì: Internazionale

Indicizzato da:

  • ISI Web of Science (WOS) [000221690100003]
  • Scopus [2-s2.0-2442666557]

Strutture CNR:

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